Variant information
| Systematic Name | c.1135_1142del8 |
|---|---|
| Protein name | p.Pro379fs |
| Mutation type | frameshift insertion or deletion |
| Domain | C-term |
| Pathogenicity | Mutation associated with disease |
Matching entries in the proband database
| No: | Systematic Name | Protein name | Mutation type | Domain | Pathogenicity | Gender | Phenotype | Proband id |
|---|---|---|---|---|---|---|---|---|
| 1 | c.1135_1142del8 | p.Pro379fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Female | Not Rett synd. | 6669 |
| 2 | c.1135_1142del8 | p.Pro379fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Female | Not Rett synd. | 6668 |